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Severe Hemophilia A Caused by an Unbalanced Chromosomal Rearrangement Identified Using Nanopore Sequencing

N. Chatron,C. Schluth-Bolard,M. Fretigny,A. Labalme,G. Vilchez,S. Castet,C. Negrier,D. Sanlaville,C. Vinciguerra,Y. Jourdy

Journal of Thrombosis and Haemostasis（2019）

引用 11|浏览59
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关键词
chromosome aberrations,duplication,F8,gene fusion,hemophilia A,nanopore sequencing
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